Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Son Yong Karst"'
Autor:
Qiaoli Li, C Herbert Pratt, Louise A Dionne, Heather Fairfield, Son Yong Karst, John P Sundberg, Jouni Uitto
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e113542 (2014)
Generalized arterial calcification of infancy (GACI), an autosomal recessive disorder caused by mutations in the ENPP1 gene, manifests with extensive mineralization of the cardiovascular system. The affected individuals in most cases die within the f
Externí odkaz:
https://doaj.org/article/4b722a06c6884aa58f1633118f8f90c3
Autor:
Ronald G. Gregg, Gobinda Pangeni, Laura G. Reinholdt, Neal S. Peachey, Samantha Burrill, Son Yong Karst, Bernard FitzMaurice, Maureen A. McCall, Nazarul Hasan, Marge Strobel, Melissa L. Berry, Bo Chang
Publikováno v:
Journal of Neurophysiology. 118:845-854
This article describes a mouse model of the human disease complete congenital stationary night blindness in which the mutation reduces but does not eliminate GRM6 expression and bipolar cell function, a phenotype distinct from that seen in other Grm6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5d4572a8c2231c03ac04eec79477c38
https://doi.org/10.1152/jn.00888.2016
https://doi.org/10.1152/jn.00888.2016
Autor:
Soheil S. Dadras, Derry C. Roopenian, Son Yong Karst, John P. Sundberg, Christopher S. Potter, Raoul Kuiper, C. Herbert Pratt
Publikováno v:
Experimental and Molecular Pathology. 102:128-132
Mus pahari is a wild-derived, inbred mouse strain. M. pahari colony managers observed fragility of this strain’s skin resulting in separation of tail skin from the mouse if handled incorrectly. Tail skin tension testing of M. pahari resulted in sig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8baf6f77dc5afba8d37eeb0ef34dbf6
https://doi.org/10.1016/j.yexmp.2016.12.009
https://doi.org/10.1016/j.yexmp.2016.12.009
Autor:
Son Yong Karst, Timothy C. Cox, Suhaib Borgeia, Roderick T. Bronson, Mohamed G. Hassan, Laura G. Reinholdt, Harold F Coombs, Stephen A. Murray, Michelle Curtain, David E. Bergstrom, Louise A Dionne, Heather Fairfield, Leah Rae Donahue, Kristina Palmer
Publikováno v:
Developmental Biology. 415:216-227
Craniofacial abnormalities are among the most common features of human genetic syndromes and disorders. The etiology of these conditions is often complex, influenced by both genetic context and the environment. Frequently, craniofacial abnormalities
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b01d2b9aeee8744661a9514c807537f
https://doi.org/10.1016/j.ydbio.2015.07.023
https://doi.org/10.1016/j.ydbio.2015.07.023
Autor:
Neal S, Peachey, Nazarul, Hasan, Bernard, FitzMaurice, Samantha, Burrill, Gobinda, Pangeni, Son Yong, Karst, Laura, Reinholdt, Melissa L, Berry, Marge, Strobel, Ronald G, Gregg, Maureen A, McCall, Bo, Chang
Publikováno v:
Journal of neurophysiology. 118(2)
This article describes a mouse model of the human disease complete congenital stationary night blindness in which the mutation reduces but does not eliminate GRM6 expression and bipolar cell function, a phenotype distinct from that seen in other Grm6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b50d8201d490b0a18ca47a259c862ea8
https://pubmed.ncbi.nlm.nih.gov/28490646
https://pubmed.ncbi.nlm.nih.gov/28490646
Autor:
Laura G. Reinholdt, Amira Masri, Patricia F Ward-Bailey, Abby Tadenev, Jocelyn C. Sharp, Anne Czechanski, Robert W. Burgess, Candice Byers, Anuj Srivastava, Jeffrey Milbrandt, Belinda S. Harris, Hanan Hamamy, Periklis Makrythanasis, Stylianos E. Antonarakis, Gregory A. Cox, Rangjiao Liu, Stephen A. Murray, Coleen Kane, Jay Shendure, Whitney Martin, Polyxeni Gudis, Federico Santoni, Bo Chang, Anuradha Lakshminarayana, Paul F. Cliften, Laurent P. Bogdanik, Ian Greenstein, Kristina Palmer, Louise A Dionne, Heather Fairfield, Martin Kircher, C. Herbert Pratt, Son Yong Karst, Melissa L. Berry, David E. Bergstrom, Michelle Curtain, Leah Rae Donahue, Guruprasad Ananda, David G. Schroeder
Publikováno v:
Genome Research, Vol. 25, No 7 (2015) pp. 948-957
Genome Res, vol. 25, no. 7, pp. 948-57
GENOME RESEARCH
Genome Res, vol. 25, no. 7, pp. 948-57
GENOME RESEARCH
Spontaneously arising mouse mutations have served as the foundation for understanding gene function for more than 100 years. We have used exome sequencing in an effort to identify the causative mutations for 172 distinct, spontaneously arising mouse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7d929619ef8a01cd99b8ef1fb6b5e99
https://europepmc.org/articles/PMC4484392/
https://europepmc.org/articles/PMC4484392/
Autor:
Jürgen K. Naggert, Dawn Young, Paul N. Taylor, Patsy M. Nishina, Jung Han Kim, Son Yong Karst
Publikováno v:
The Journal of Nutrition. 133:1265-1271
Three new spontaneous recessive mouse mutations in the leptin receptor gene (Lepr), Lepr db-rtnd , Lepr db-dmpg and Lepr db-rlpy , originated in the CBA/J (CBA), B10.D2-H8 b (57N)/Sn (B10) and NU/J strains, respectively. Lepr db-rtnd and Lepr db-dmpg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cca36ac0076bb8b46600bfca402d76c8
https://doi.org/10.1093/jn/133.5.1265
https://doi.org/10.1093/jn/133.5.1265
Autor:
Jouni Uitto, Qiaoli Li, John P. Sundberg, C. Herbert Pratt, Son Yong Karst, Louise A Dionne, Heather Fairfield
Publikováno v:
PLoS ONE
PLoS ONE, Vol 9, Iss 12, p e113542 (2014)
PLoS ONE, Vol 9, Iss 12, p e113542 (2014)
Generalized arterial calcification of infancy (GACI), an autosomal recessive disorder caused by mutations in the ENPP1 gene, manifests with extensive mineralization of the cardiovascular system. The affected individuals in most cases die within the f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cceeb03686915e20cc74dcdc5987224
https://doi.org/10.1371/journal.pone.0113542
https://doi.org/10.1371/journal.pone.0113542
Autor:
Jung Han, Kim, Paul N, Taylor, Dawn, Young, Son Yong, Karst, Patsy M, Nishina, Jürgen K, Naggert
Publikováno v:
The Journal of nutrition. 133(5)
Three new spontaneous recessive mouse mutations in the leptin receptor gene (Lepr), Lepr(db-rtnd), Lepr(db-dmpg) and Lepr(db-rlpy), originated in the CBA/J (CBA), B10.D2-H8(b)(57N)/Sn (B10) and NU/J strains, respectively. Lepr(db-rtnd) and Lepr(db-dm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c862a466e3cc8cdccd1cd9ca1b419ea2
https://pubmed.ncbi.nlm.nih.gov/12730408
https://pubmed.ncbi.nlm.nih.gov/12730408
Autor:
Jung Han Kim, Taylor, Paul N., Dawn Young, Son Yong Karst, Nishina, Patsy M., Naggert, Jürgen K.
Publikováno v:
Journal of Nutrition; May2003, Vol. 133 Issue 5, p1265-1271, 7p